An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification in the Hutterite population. An identity-by-descent mapping approach using eight patients from three interrelated Hutterite families localized the gene for this syndrome to chromosome region 9p24. Haplotype analysis identified familial and ancestral recombination events and refined the minimal region to a 2-Mb interval between markers D9S129 and D9S1871. A 199-kb homozygous deletion encompassing the entire very low density lipoprotein receptor (VLDLR) gene was present in all affected individuals. VLDLR is part of the reelin signaling pathway, which guides neuroblast migration in the cerebral cortex and cerebellum. To our knowledge, this syndrome represents the first human lipoprotein receptor malformation syndrome and the second human disease associated with a reelin pathway defect.

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A 10-month-old boy was brought to the emergency department with a four-day history of an erythematous central line insertion site, five months following a liver-small bowel-pancreas transplant. One day before presentation, there had been some purulent discharge from the site. Other than increased fussiness, there was no documented fever, vomiting, change in appetite or change in bowel habits. The child had not had any recent infections and no known sick contacts. He went swimming for the first time two weeks before admission, but otherwise he had no new exposures. His travel history was unremarkable. The child ate table foods, and a family favourite was Chinese food, which they ate several times a week. The patient was born at 35 weeks' gestation with gastroschisis. Within three weeks, he underwent a staged repair and after failing a refeeding protocol, he was started on total parenteral nutrition. At five months of age, he underwent a liversmall bowel-pancreas transplant for complications related to his gastroschisis, including total parenteral nutrition cholestasis, and he was sent home at seven months of age. His central venous line had been in place since his transplant. Current line care involved flushing three times a week by home care nurses, and regular cleaning with alcohol swabs by his parents. Medications included tacrolimus, sirolimus, prednisone, trimethoprim-sulfamethoxazole, ranitidine and ferrous sulphate. His immunizations were up to date and his family history was unremarkable. Physical examination revealed a nontoxic-looking 10-month-old in no apparent distress. His temperature was 36.9°C, pulse rate was 139 beats/min and respiratory rate was 36 breaths/min. A small margin around the catheter site appeared erythematous with a small amount of purulent exudate. The area around the line insertion site was not tender to palpation. Aside from surgical scars, the remainder of his examination was unremarkable. Hematological studies revealed a white blood cell count of 4.8×10 9 /L with 1.7×10 9 /L neutrophils and 2.1×10 9 /L lymphocytes. Hemoglobin level was 106 g/L and platelet count was 254×10 9 /L. Electrolyte, creatinine and urea levels were all unremarkable. Alkaline phosphatase was elevated, at 389 U/L, while alanine aminotransferase, aspartate aminotransferase and total bilirubin levels were all normal. A swab performed at the line insertion site grew coagulase-negative Staphylococcus. What did the blood culture reveal?